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The resulting enzyme is thermolabile and in homozygotes, enzymatic activity is depressed to 35% of its usual level. [10] The second variant is a milder one, caused by a homologous 1298C polymorphism. This leads to 68% of the control values of enzyme activity, [ 10 ] and it normally does not lead to low serum folate.
The MTHFR nucleotide at position 677 in the gene has two possibilities: C or T . C at position 677 (leading to an alanine at amino acid 222) is the reference allele. The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile alternative enzyme variant with reduced activity. Both reference and alternative ...
Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.
Folate deficiency, also known as vitamin B 9 deficiency, is a low level of folate and derivatives in the body. [1] This may result in megaloblastic anemia in which red blood cells become abnormally large, and folate deficiency anemia is the term given for this medical condition. [3] Signs of folate deficiency are often subtle. [4]
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
1719 13361 Ensembl ENSG00000228716 ENSMUSG00000021707 UniProt P00374 P00375 RefSeq (mRNA) NM_000791 NM_001290354 NM_001290357 NM_010049 RefSeq (protein) NP_000782 NP_001277283 NP_001277286 NP_034179 Location (UCSC) Chr 5: 80.63 – 80.65 Mb Chr 13: 92.49 – 92.53 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Dihydrofolate reductase, or DHFR, is an enzyme that reduces dihydrofolic ...
The Methionine Synthase Reductase (MTRR) gene primarily acts in the reductive regeneration of cob(I)alamin (vitamin B12). [10]Cob(I)alamin is a cofactor that maintains activation of the methionine synthase enzyme (MTR) Methionine synthase, linking folate and methionine metabolism.
Without myoadenylate deaminase, heavy activity causes adenosine to be released into the cell or perfused into the surrounding tissues. Fatigue and sedation after heavy exertion can be caused by excess adenosine in the cells which signals muscle fiber to feel fatigued. In the brain, excess adenosine decreases alertness and causes sleepiness.